Purpose :
To describe the clinical utility of molecular genetic analysis in the diagnosis or exclusion of suspected corneal dystrophies.

Methods :
Slit lamp examination and optical coherence tomography (OCT) were performed on a 52 year old female referred for evaluation of bilateral corneal stromal opacities. After informed consent was obtained, genomic DNA was collected, and PCR amplification and cycle sequencing of all 17 exons and exon-intron boundaries of TGFBI were performed.

Results :
Slit lamp examination demonstrated bilateral discrete anterior stromal opacities, which were also demonstrated by OCT to be confined to a single plane in the anterior corneal stroma. While the appearance of the opacities was consistent with granular corneal dystrophy, they were located in only the temporal cornea in a crescentic pattern, sparing the central cornea. This pattern, the late onset and the absence of a family history were atypical of GCD. Screening of TGFBI did not reveal a pathogenic mutation, excluding GCD1 and other TGFBI-related corneal dystrophies as the cause of the observed corneal phenotype. The patient was subsequently referred for evaluation to exclude paraproteinemic keratopathy, which identified chronic lymphocytic leukemia (CLL) as the potential systemic cause of the corneal findings.

Conclusions :
Paraproteinemic keratopathies may present with phenotypic similarities to a variety of corneal dystrophies. Genetic testing, which is available for most corneal dystrophies, provides the clinician with a definitive means of differentiating between inherited and acquired disorders.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.